ORPHA:353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:353284 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- High palate
- Facial grimacing
- Hypertelorism
- Micrognathia
- Low-set ears
- Downslanted palpebral fissures